Clinical Trials Logo

Clinical Trial Details — Status: Completed

Administrative data

NCT number NCT00647439
Other study ID # 080099
Secondary ID 08-EI-0099
Status Completed
Phase
First received
Last updated
Start date March 27, 2008
Est. completion date December 4, 2018

Study information

Verified date December 4, 2018
Source National Institutes of Health Clinical Center (CC)
Contact n/a
Is FDA regulated No
Health authority
Study type Observational

Clinical Trial Summary

This study will identify genes that are associated with inflammation or degeneration of the retina (membrane lining the back of the eye that relays vision signals to the brain). It is thought that many retinal conditions are due to an altered immune system and are based on how the person s genes function and communicate.

People 4 years of age or older who have a retinal condition such as uveitis, age-related macular degeneration or diabetic retinopathy may be eligible for this study. Healthy volunteers and healthy people who have a family member with one of these conditions are also eligible. Patients with inherited retinal degeneration are excluded.

Participants undergo the following tests and procedures:

- Eye examination to assess visual acuity (eye chart test) and eye pressure, and to examine the pupils, lenses, retina and eye movements. Photographs of the inside of the eye may also be taken. The pupils are dilated with drops for this examination.

- Blood draw for genetic testing.

Participants may also undergo one or more of the following tests:

- Optical coherence tomography. This is a type of photograph of the back of the eye to measure thickness of the retina.

- Fluorescein angiography and indocyanine green angiography. Pictures of the eye s blood vessels are taken using either a fluorescein or indocyanine green dye. The dye is injected into a vein in an arm and travels to the blood vessels in the eyes. A camera takes pictures of the dye as it flows through the blood vessels.

- Electroretinogram (ERG) to measure retinal function. The patient sits in a dark room for 30 minutes with his or her eyes patched. Then, a small metal disk electrode is taped to the forehead, the eye patches are removed, the surface of the eye is numbed with eye drops, and contact lenses are placed on the eyes. The patient then watches flashing lights. The contact lenses sense small electrical signals generated by the retina when the light flashes....


Description:

Objective:

This project will study epigenetic mechanisms, the inheritance of (both Mendelian and complex) and biomarkers of Immune Mediated Eye Diseases, in families of many nationalities and ethnic backgrounds in order to identify the genes that, when genetically mutated or epigenetically regulated, cause immune mediated eye disease, and the pathophysiology through which they act.

Study Population: The number of participants to be enrolled has no logical upper limit, but will be at 1,000 during the next five years. Race, age and sex matched controls, anonymous volunteers will also be needed to donate a blood sample. The study consists of ascertaining individuals and families with multiple individuals, if possible, affected by immune mediated ocular disease.

Design:

These patients and their families will undergo detailed ophthalmologic examinations and, where indicated, additional non-investigational examinations to characterize their ocular status. A blood sample will be collected from each individual and immunophenotyped using Flow Cytometry. Serum will be isolated for testing serological markers. One or more sub-populations of cells (including but not limited to CD4 plus and CD8 plus T cells, B cells, CD14 plus monocytes, dendritic cells, NK cells, neutrophils and granulocytes) will be isolated. DNA, RNA and chromatin may be isolated for further gene expression profiling and epigenetic studies. Association of genetic or epigenetic changes with ocular inflammatory disease in patients and their families will be identified using one of the techniques including but not limited to DNA-seq, BS-seq, MeDIP-seq, ChIP-seq, RNA-seq, microarray, PCR, and multicolor Flow Cytometry staining. DNA samples from the AREDS study, held under the DCR/NEI Repository protocol (07-EI-0168), will also be used for analysis. If necessary, the gene product or blood sample will be characterized biochemically.

Outcome Measures:

Immunophenotyping, gene expression and epigenetic changes will be reported using Statistical analysis performed using the t test or ANOVA and post-hoc testing with Fisher s least significant difference test. Unless otherwise noted, results are presented as the mean SEM. Biochemical, metabolic, and physiological effects will be individualized to the specific assay


Recruitment information / eligibility

Status Completed
Enrollment 609
Est. completion date December 4, 2018
Est. primary completion date
Accepts healthy volunteers Accepts Healthy Volunteers
Gender All
Age group 4 Years and older
Eligibility - INCLUSION CRITERIA:

Participants with the following will be recruited:

- Individuals or family members of individuals with immune mediated retinal disorders, including uveitis, age related macular degeneration, and diabetic retinopathy.

- Adults must be capable of providing their own consent.

- All participants must be able to cooperate with study examination and phlebotomy.

- Children must be older than 4 years of age.

EXCLUSION CRITERIA:

- Individuals with diseases, infections, or trauma that mimic immune medicated retinal disorders.

- Children requiring sedation for study procedures.

Study Design


Related Conditions & MeSH terms


Locations

Country Name City State
United States National Institutes of Health Clinical Center, 9000 Rockville Pike Bethesda Maryland

Sponsors (1)

Lead Sponsor Collaborator
National Eye Institute (NEI)

Country where clinical trial is conducted

United States, 

References & Publications (3)

Becker KG, Simon RM, Bailey-Wilson JE, Freidlin B, Biddison WE, McFarland HF, Trent JM. Clustering of non-major histocompatibility complex susceptibility candidate loci in human autoimmune diseases. Proc Natl Acad Sci U S A. 1998 Aug 18;95(17):9979-84. — View Citation

Carrel L, Willard HF. X-inactivation profile reveals extensive variability in X-linked gene expression in females. Nature. 2005 Mar 17;434(7031):400-4. — View Citation

Richardson B. Primer: epigenetics of autoimmunity. Nat Clin Pract Rheumatol. 2007 Sep;3(9):521-7. Review. — View Citation

See also
  Status Clinical Trial Phase
Completed NCT03660371 - ILM Peeling in PDR Patients Undergoing PPV for VH N/A
Completed NCT03660384 - Silicone Oil Versus Gas in PDR Patients Undergoing Vitrectomy N/A
Completed NCT03660345 - PPV With Internal Limiting Membrane Peeling for Treatment-Naïve DME Phase 3
Completed NCT04905459 - ARDA Software for the Detection of mtmDR
Active, not recruiting NCT04271709 - Manhattan Vision Screening and Follow-Up Study (NYC-SIGHT) N/A
Recruiting NCT03713268 - Intraoperative OCT Guidance of Intraocular Surgery II
Completed NCT05022615 - Comparing 3 Imaging Systems
Completed NCT00385333 - Metabolic Mapping to Measure Retinal Metabolism Phase 2
Recruiting NCT04101604 - Biomarkers of Common Eye Diseases
Completed NCT03702374 - Combined Antioxidant Therapy on Oxidative Stress, Mitochondrial Dysfunction Markers in Diabetic Retinopathy Phase 3
Completed NCT01908816 - An Open-label Extended Clinical Protocol of Ranibizumab to Evaluate Safety and Efficacy in Rare VEGF Driven Ocular Diseases. Phase 3
Completed NCT04009980 - Long-term Retinal Changes After Topical Citicoline Administration in Patients With Mild Signs of Diabetic Retinopathy in Type 1 Diabetes Mellitus. N/A
Completed NCT02924311 - Routine Clinical Practice for Use of Intravitreal Aflibercept Treatment in Patients With Diabetic Macular Edema
Not yet recruiting NCT06257082 - Video-based Patient Education Intervention for Diabetic Eye Screening in Latinx Communities N/A
Not yet recruiting NCT05452993 - Screening for Diabetic Retinopathy in Pharmacies With Artificial Intelligence Enhanced Retinophotography N/A
Withdrawn NCT02812030 - Aflibercept for Retinopathy in the Real World N/A
Completed NCT02391558 - Clinical Evaluation of Noninvasive OCT Angiography Using a Zeiss OCT Prototype to Compare to Fluorescein Angiography N/A
Active, not recruiting NCT02330042 - OCT Biomarkers for Diabetic Retinopathy
Active, not recruiting NCT02353923 - OcuStem Nutritional Supplement in Diabetic Patients With Mild to Moderate Non-proliferative Retinopathy N/A
Completed NCT02390245 - Philadelphia Telemedicine Glaucoma Detection and Follow-Up Study N/A